Publications by authors named "Susan M White"

96Publications

Microarray diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy caused by a novel homozygous intragenic AIRE deletion.

J Paediatr Child Health 2020 Aug 31. Epub 2020 Aug 31.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/jpc.15124DOI Listing
August 2020

Response to Ferket et al.

Genet Med 2020 Jul 1. Epub 2020 Jul 1.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1038/s41436-020-0889-zDOI Listing
July 2020

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Authors:
Laura Castilla-Vallmanya Kaja K Selmer Clémantine Dimartino Raquel Rabionet Bernardo Blanco-Sánchez Sandra Yang Margot R F Reijnders Antonie J van Essen Myriam Oufadem Magnus D Vigeland Barbro Stadheim Gunnar Houge Helen Cox Helen Kingston Jill Clayton-Smith Jeffrey W Innis Maria Iascone Anna Cereda Sara Gabbiadini Wendy K Chung Victoria Sanders Joel Charrow Emily Bryant John Millichap Antonio Vitobello Christel Thauvin Frederic Tran Mau-Them Laurence Faivre Gaetan Lesca Audrey Labalme Christelle Rougeot Nicolas Chatron Damien Sanlaville Katherine M Christensen Amelia Kirby Raymond Lewandowski Rachel Gannaway Maha Aly Anna Lehman Lorne Clarke Luitgard Graul-Neumann Christiane Zweier Davor Lessel Bernarda Lozic Ingvild Aukrust Ryan Peretz Robert Stratton Thomas Smol Anne Dieux-Coëslier Joanna Meira Elizabeth Wohler Nara Sobreira Erin M Beaver Jennifer Heeley Lauren C Briere Frances A High David A Sweetser Melissa A Walker Catherine E Keegan Parul Jayakar Marwan Shinawi Wilhelmina S Kerstjens-Frederikse Dawn L Earl Victoria M Siu Emma Reesor Tony Yao Robert A Hegele Olena M Vaske Shannon Rego Kevin A Shapiro Brian Wong Michael J Gambello Marie McDonald Danielle Karlowicz Roberto Colombo Alessandro Serretti Lynn Pais Anne O'Donnell-Luria Alison Wray Simon Sadedin Belinda Chong Tiong Y Tan John Christodoulou Susan M White Anne Slavotinek Deborah Barbouth Dayna Morel Swols Mélanie Parisot Christine Bole-Feysot Patrick Nitschké Véronique Pingault Arnold Munnich Megan T Cho Valérie Cormier-Daire Susanna Balcells Stanislas Lyonnet Daniel Grinberg Jeanne Amiel Roser Urreizti Christopher T Gordon

Genet Med 2020 Jul 7;22(7):1215-1226. Epub 2020 May 7.

Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1038/s41436-020-0792-7DOI Listing
July 2020

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.

Am J Hum Genet 2020 05 2;106(5):596-610. Epub 2020 Apr 2.

Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada; Institute of Medical Sciences, University of Toronto, Toronto, ON M5S 1A8, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.03.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7212265PMC
May 2020

Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.

Am J Hum Genet 2020 04 19;106(4):559-569. Epub 2020 Mar 19.

Murdoch Children's Research Institute, Parkville, Victoria 3052, Australia; Department of Paediatrics, University of Melbourne, Parkville, Victoria 3052, Australia; Victorian Clinical Genetics Services, Parkville, Victoria 3052, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.02.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118692PMC
April 2020

Whole exome sequencing reveals a de novo missense variant in in a Rett syndrome-like patient.

Clin Case Rep 2019 Dec 12;7(12):2476-2482. Epub 2019 Nov 12.

Brain and Mitochondrial Research Group Murdoch Children's Research Institute Parkville Vic. Australia.

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http://dx.doi.org/10.1002/ccr3.2511DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935606PMC
December 2019

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

J Hum Genet 2019 Dec 17;64(12):1173-1186. Epub 2019 Sep 17.

Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.

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http://dx.doi.org/10.1038/s10038-019-0667-4DOI Listing
December 2019

Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes.

Genet Med 2019 11 21;21(11):2586-2593. Epub 2019 May 21.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.

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http://dx.doi.org/10.1038/s41436-019-0534-xDOI Listing
November 2019

Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit.

J Paediatr Child Health 2019 Nov 12;55(11):1309-1314. Epub 2019 Feb 12.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/jpc.14398DOI Listing
November 2019

Corrigendum to "Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome" [Epilepsy Res. 140 (2018) 166-170].

Epilepsy Res 2018 11 10;147:121. Epub 2018 Aug 10.

Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia; Department of Paediatrics, The University of Melbourne, 50 Flemington Road, Parkville, Victoria, 3052, Australia; Department of Neurology, Royal Children's Hospital, 50 Flemington Road, Parkville, Victoria, 3052, Australia; The Florey Institute of Neuroscience and Mental Health, 245 Burgundy St., Heidelberg, Victoria, 3084, Australia.

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http://dx.doi.org/10.1016/j.eplepsyres.2018.07.019DOI Listing
November 2018

Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome.

Semin Pediatr Neurol 2018 07 5;26:2-9. Epub 2017 Apr 5.

From the Department of Neurology, Royal Children's Hospital, Melbourne, Australia; Neurosciences Research, Murdoch Childrens Research Institute, Melbourne, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.spen.2017.03.001DOI Listing
July 2018

Report of a bi-allelic truncating germline mutation in TP53.

Fam Cancer 2019 01;18(1):101-104

Murdoch Children's Research Institute, Melbourne, VIC, Australia.

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http://dx.doi.org/10.1007/s10689-018-0087-1DOI Listing
January 2019

Smith-Lemli-Opitz syndrome: clinical and biochemical correlates.

J Pediatr Endocrinol Metab 2018 Mar;31(4):451-459

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.

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http://dx.doi.org/10.1515/jpem-2017-0501DOI Listing
March 2018

Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome.

Epilepsy Res 2018 02 3;140:166-170. Epub 2018 Feb 3.

Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, 3084, Australia; Department of Paediatrics, The University of Melbourne, 50 Flemington Road, Parkville, Victoria, 3052, Australia; Department of Neurology, Royal Children's Hospital, 50 Flemington Road, Parkville, Victoria, 3052, Australia; The Florey Institute of Neuroscience and Mental Health, 245 Burgundy St., Heidelberg, Victoria, 3084, Australia.

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http://dx.doi.org/10.1016/j.eplepsyres.2018.01.014DOI Listing
February 2018

Maternal inheritance of BDNF deletion, with phenotype of obesity and developmental delay in mother and child.

Am J Med Genet A 2018 01 21;176(1):194-200. Epub 2017 Nov 21.

Obesity Research, Murdoch Childrens Research Institute, Parkville, Australia.

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http://dx.doi.org/10.1002/ajmg.a.38539DOI Listing
January 2018

Malignant Lesions in the Dentomaxillofacial Complex.

Authors:
Susan M White

Radiol Clin North Am 2018 Jan 19;56(1):63-76. Epub 2017 Oct 19.

Private Practice, 8 Brenda Lane, Merrimack, NH 03054, USA. Electronic address:

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http://dx.doi.org/10.1016/j.rcl.2017.08.005DOI Listing
January 2018

Current use of chromosomal microarray by Australian paediatricians and implications for the implementation of next generation sequencing.

J Paediatr Child Health 2017 Jul 27;53(7):650-656. Epub 2017 Apr 27.

Department of General Medicine, Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/jpc.13523DOI Listing
July 2017

Cohort study of Gorlin syndrome with emphasis on standardised phenotyping and quality of life assessment.

Intern Med J 2017 Jun;47(6):664-673

Department of Genetic Medicine, Royal Melbourne Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/imj.13429DOI Listing
June 2017

An approach to the child with dysmorphic features.

J Paediatr Child Health 2017 03;53(3):221-222

Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/jpc.13316DOI Listing
March 2017

A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9.

Am J Med Genet A 2017 03 7;173(3):820-823. Epub 2017 Feb 7.

Bruce Lefroy Centre For Genetic Health Research, Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1002/ajmg.a.38076DOI Listing
March 2017

"It wasn't a disaster or anything": Parents' experiences of their child's uncertain chromosomal microarray result.

Am J Med Genet A 2016 11 13;170(11):2895-2904. Epub 2016 Jul 13.

Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37838DOI Listing
November 2016

Epilepsy in KCNH1-related syndromes.

Epileptic Disord 2016 Jun;18(2):123-36

Pediatric Neurology Division Department of Pediatrics, Child Neurology and Psychiatry, Sapienza-University of Rome, Rome, Italy.

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http://dx.doi.org/10.1684/epd.2016.0830DOI Listing
June 2016

Cpipe: a shared variant detection pipeline designed for diagnostic settings.

Genome Med 2015 10;7(1):68. Epub 2015 Jul 10.

Murdoch Childrens Research Institute, Royal Children's Hospital, Flemington Road, Parkville, 3052 Australia ; Department of Medical Biology, The University of Melbourne, Melbourne, VIC 3010 Australia ; Melbourne Genomics Health Alliance, Melbourne, Australia ; Walter and Eliza Hall Institute, Parkville, VIC 3052 Australia.

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http://dx.doi.org/10.1186/s13073-015-0191-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4515933PMC
July 2015

Speech and language in a genotyped cohort of individuals with Kabuki syndrome.

Am J Med Genet A 2015 Jul 8;167(7):1483-92. Epub 2015 Mar 8.

Department of Paediatrics, University of Melbourne, Melbourne, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37026DOI Listing
July 2015

ARID1B-mediated disorders: Mutations and possible mechanisms.

Intractable Rare Dis Res 2015 Feb;4(1):17-23

Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia; ; Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.5582/irdr.2014.01021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4322591PMC
February 2015

Is cardiac rhabdomyoma a feature of Birt Hogg Dubé syndrome?

Am J Med Genet A 2015 Apr 5;167A(4):802-4. Epub 2015 Feb 5.

Genetic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, Melbourne, Australia; Department of Medicine, Royal Melbourne Hospital, University of Melbourne, Melbourne, Australia; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, Section of Medical Genetics, University of Genoa, Genoa, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36917DOI Listing
April 2015

A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development.

Mol Syndromol 2014 Dec 8;5(6):276-86. Epub 2014 Nov 8.

Murdoch Childrens Research Institute, Department of Plastic and Maxillofacial Surgery, Royal Children's Hospital, Parkville, Vic., Australia ; Department of Paediatrics, University of Melbourne, Parkville, Vic., Australia.

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http://dx.doi.org/10.1159/000368865DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4281577PMC
December 2014

Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease.

J Am Coll Cardiol 2014 Dec;64(23):2498-506

Kids Heart Research, The Children's Hospital at Westmead, Sydney, Australia; The Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia; Sydney Medical School, University of Sydney, Sydney, Australia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S07351097140657
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http://dx.doi.org/10.1016/j.jacc.2014.09.048DOI Listing
December 2014

A population-based profile of 160 Australians with Prader-Willi syndrome: trends in diagnosis, birth prevalence and birth characteristics.

Am J Med Genet A 2015 Feb 25;167A(2):371-8. Epub 2014 Nov 25.

Murdoch Childrens Research Institute, Melbourne, Australia.

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http://dx.doi.org/10.1002/ajmg.a.36845DOI Listing
February 2015

An exploration of the communication patterns and language used between clinical geneticists and parents of children with dysmorphic features.

Am J Med Genet A 2014 Nov 23;164A(11):2822-33. Epub 2014 Sep 23.

Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1002/ajmg.a.36749DOI Listing
November 2014

Obstructive sleep apnea successfully treated by mandibular distraction osteogenesis in a rare skeletal dysplasia.

J Craniofac Surg 2013 Mar;24(2):508-10

Department of Respiratory Medicine, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1097/SCS.0b013e3182800f04DOI Listing
March 2013

Drawing attention to difference: dilemmas in discussing dysmorphism with parents.

J Paediatr Child Health 2011 Nov 6;47(11):763-5. Epub 2010 Oct 6.

Genetic Health Services Victoria Genetics Education and Health Research, Royal Children's Hospital, Parkville, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/j.1440-1754.2010.01876.xDOI Listing
November 2011

Report of a further family with dominant deafness-onychodystrophy (DDOD) syndrome.

Am J Med Genet A 2011 Oct;155A(10):2512-5

Genetic Health Services Victoria, Royal Children’s Hospital, Parkville, Australia.

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http://dx.doi.org/10.1002/ajmg.a.34184DOI Listing
October 2011

Pierpont syndrome: a collaborative study.

Am J Med Genet A 2011 Sep 10;155A(9):2203-11. Epub 2011 Aug 10.

Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.34147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4495254PMC
September 2011

The phenotype of Floating-Harbor syndrome in 10 patients.

Am J Med Genet A 2010 Apr;152A(4):821-9

Genetic Health Services Victoria, Royal Children's Hospital, Parkville, Victoria, Australia.

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http://dx.doi.org/10.1002/ajmg.a.33294DOI Listing
April 2010

Registry- and clinic-based analyses of birth defects and syndromes associated with cleft lip/palate in Victoria, Australia.

Cleft Palate Craniofac J 2009 Nov;46(6):583-7

Genetic Health Services Victoria, 10th floor Royal Children's Hosiptal, Flemington Road, Parkville, VIC 3052, Australia. tiong.tan.org.au

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http://dx.doi.org/10.1597/07-241.1DOI Listing
November 2009

Two cases of trisomy 16 mosaicism ascertained postnatally.

Am J Med Genet A 2009 Jul;149A(7):1523-8

Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia.

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http://doi.wiley.com/10.1002/ajmg.a.32925
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http://dx.doi.org/10.1002/ajmg.a.32925DOI Listing
July 2009

Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: a new syndrome?

Am J Med Genet A 2007 Sep;143A(18):2085-8

Genetic Health Services Victoria, The Royal Children's Hospital, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1002/ajmg.a.31894DOI Listing
September 2007

Confined blood chimerism in monochorionic dizygous (MCDZ) twins.

Prenat Diagn 2007 Apr;27(4):369-72

Perinatal Medicine, Mercy Hospital for Women, 163 Studley Road, Heidelberg 3084, Australia.

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http://dx.doi.org/10.1002/pd.1670DOI Listing
April 2007

Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndrome.

Am J Med Genet A 2006 Apr;140(8):887-91

Genetic Health Services Victoria, Flemington Road, Parkville, Australia.

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http://doi.wiley.com/10.1002/ajmg.a.31187
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http://dx.doi.org/10.1002/ajmg.a.31187DOI Listing
April 2006

Prenatal magnetic resonance imaging in Gomez-Lopez-Hernandez syndrome and review of the literature.

Am J Med Genet A 2005 Nov;138(4):369-73

Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Parkville, Australia.

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http://dx.doi.org/10.1002/ajmg.a.30967DOI Listing
November 2005

The adult phenotype in Costello syndrome.

Am J Med Genet A 2005 Jul;136(2):128-35

Genetic Health Services Victoria, Royal Children's Hospital, Australia.

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http://dx.doi.org/10.1002/ajmg.a.30747DOI Listing
July 2005

Severe fetal brain dysgenesis with focal calcification.

Prenat Diagn 2005 May;25(5):362-4

Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1002/pd.1152DOI Listing
May 2005

Midline raphé, sternal cleft, and other midline abnormalities: a new dominant syndrome?

Am J Med Genet A 2005 May;135(1):9-12

Clinical Genetics Unit, Great Ormond Street Hospital, London, United Kingdom.

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http://doi.wiley.com/10.1002/ajmg.a.30682
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http://dx.doi.org/10.1002/ajmg.a.30682DOI Listing
May 2005

Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6.

J Pediatr 2004 Dec;145(6):819-25

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.

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http://dx.doi.org/10.1016/j.jpeds.2004.07.041DOI Listing
December 2004

Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.

Nat Genet 2002 Dec 4;32(4):661-5. Epub 2002 Nov 4.

Department of Cytogenetics and Molecular Genetics, Centre for Medical Genetics, Women's and Children's Hospital, 72 King William Rd., North Adelaide, SA 5006, Australia.

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http://www.nature.com/articles/ng1040
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http://dx.doi.org/10.1038/ng1040DOI Listing
December 2002